46, XY, del (3) (pter -> p25) syndrome: further delineation of the clinical phenotype

A boy with monosomy for the distal part of the short arm of chromosome 3 is described. The clinical features this patient has in common with the previ ously reported cases include pre- and post-natal growth delay, microcephaly , craniofacial dysmorphism and mental retardation. In addition, minor abnor malities not previously reported were observed, such as snapping thumbs, do rsiflected big toes, connecting anterior and posterior fontanelles at birth , nasolacrimal duct stenosis and double urethral meatus. Conclusion These five new clinical findings may help in further delineation of the syndrome and allow its early recognition. A complete revision of cl inical findings published in literature is reported.